CDK6

cyclin dependent kinase 6
OMIM: 603368, Gene2Phenotype

1 panel

Panel Reviews Mode of inheritance Details
1 panel
Red CDK6 in Severe microcephaly

Level 3: DNA repair disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 4.68
Latest signed off version: v4.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Other
  • Literature
Phenotypes
  • Autosomal recessive primary microcephaly (MCPH)
  • ?Microcephaly 12, primary, autosomal recessive, 616080